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Molecular complexity analysis of the diagnosis of Gitelman syndrome in China

Gitelman syndrome (GS) is an autosomal recessive renal tubal disease characterized by hypomagnesemia, hypokalemia, and hypocalciuria. The disease is caused by defects in the SLC12A3 gene, which encodes the thiazide diuretic-sensitive sodium chloride cotransporter (NCCT). In this study, a 20-year-old...

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Detalles Bibliográficos
Autores principales:	Song, Wei, Hu, Yue, Zhao, Ling, Zhang, Jinming, Zhang, Yu, Wen, Jianxuan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	De Gruyter 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290276/ https://www.ncbi.nlm.nih.gov/pubmed/37360783 http://dx.doi.org/10.1515/biol-2022-0634

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